Blood Res.  2023 Dec;58(4):224-228. 10.5045/br.2023.2023196.

Clinically relevant core genes for hematologic malignancies in clinical NGS panel testing

• Song JS

• KMID: 2550201
• DOI: http://doi.org/10.5045/br.2023.2023196

Reference

1. Khoury JD, Solary E, Abla O, et al. 2022; The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 36:1703–19. DOI: 10.1038/s41375-022-01613-1. PMID: 35732831. PMCID: PMC9252913.

2. Bernard E, Tuechler H, Greenberg PL, et al. 2022; Molecular International Prognostic Scoring System for Myelodysplastic Syndromes. NEJM Evidence. 1:1–14. DOI: 10.1056/EVIDoa2200008.

3. Chakravarty D, Gao J, Phillips SM, et al. 2017; OncoKB: a precision oncology knowledge base. JCO Precis Oncol. 2017:PO.

4. Alaggio R, Amador C, Anagnostopoulos I, et al. 2022; The 5th edition of the World Health Organization classification of haematolymphoid tumours: lymphoid neoplasms. Leukemia. 36:1720–48. DOI: 10.1038/s41375-022-01620-2. PMID: 35732829. PMCID: PMC9214472.

5. National Comprehensive Cancer Network. 2023. Acute lymphoblastic leukemia (Version 1.2023). National Comprehensive Cancer Network;Plymouth Meeting, PA: at https://www.nccn.org/professionals/physician_gls/pdf/all.pdf. Accessed September 11, 2023.

6. Arber DA, Orazi A, Hasserjian RP, et al. 2022; International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood. 140:1200–28. DOI: 10.1182/blood.2022015850. PMID: 35767897. PMCID: PMC9479031.

7. Taylor J, Xiao W, Abdel-Wahab O. 2017; Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 130:410–23. DOI: 10.1182/blood-2017-02-734541. PMID: 28600336. PMCID: PMC5533199.

8. Sin CF, Man PM. 2021; Early T-cell precursor acute lymphoblastic leukemia: diagnosis, updates in molecular pathogenesis, management, and novel therapies. Front Oncol. 11:750789. DOI: 10.3389/fonc.2021.750789. PMID: 34912707. PMCID: PMC8666570. PMID: e6709299e1584832bc967422cf3e0cc3.

9. Roberts KG. 2018; Genetics and prognosis of ALL in children vs adults. Hematology Am Soc Hematol Educ Program. 2018:137–45. DOI: 10.1182/asheducation-2018.1.137. PMID: 30504302. PMCID: PMC6245970.

10. Mohseni M, Uludag H, Brandwein JM. 2018; Advances in biology of acute lymphoblastic leukemia (ALL) and therapeutic implications. Am J Blood Res. 8:29–56. PMID: 30697448. PMCID: PMC6334189.

11. Reglero C, Dieck CL, Zask A, et al. 2022; Pharmacologic inhibition of NT5C2 reverses genetic and nongenetic drivers of 6-MP resistance in acute lymphoblastic leukemia. Cancer Discov. 12:2646–65. DOI: 10.1158/2159-8290.CD-22-0010. PMID: 35984649. PMCID: PMC9633388.

12. Roberts KG. 2018; TKI resistance in Ph-like ALL. Blood. 131:2181–2. DOI: 10.1182/blood-2018-03-833665. PMID: 29773543.

13. Wahlund M, Nilsson A, Kahlin AZ, et al. 2020; The role of TPMT, ITPA, and NUDT15 variants during mercaptopurine treatment of swedish pediatric patients with acute lymphoblastic leukemia. J Pediatr. 216:150–7. DOI: 10.1016/j.jpeds.2019.09.024. PMID: 31635813.

14. Wright GW, Huang DW, Phelan JD, et al. 2020; A probabilistic classification tool for genetic subtypes of diffuse large B cell lymphoma with therapeutic implications. Cancer Cell. 37:551–68. e14DOI: 10.1016/j.ccell.2020.03.015. PMID: 32289277. PMCID: PMC8459709.

15. Rossi D, Fangazio M, Rasi S, et al. 2012; Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood. 119:2854–62. DOI: 10.1182/blood-2011-12-395673. PMID: 22308293.

16. Rosenquist R, Rosenwald A, Du MQ, et al. 2016; Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of- the-art and beyond. Haematologica. 101:1002–9. DOI: 10.3324/haematol.2015.134510. PMID: 27582569. PMCID: PMC5060016.

17. Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR. 2014; Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 123:2791–6. DOI: 10.1182/blood-2014-01-550905. PMID: 24553177.

18. Yanguas-Casás N, Pedrosa L, Fernández-Miranda I, Sánchez-Beato M. 2021; An overview on diffuse large B-cell lymphoma models: towards a functional genomics approach. Cancers (Basel). 13:893. DOI: 10.3390/cancers13122893. PMID: 34207773. PMCID: PMC8226720. PMID: bd4e55e85aed456eb8ad7de3a7113eda.

19. Schmitz R, Young RM, Ceribelli M, et al. 2012; Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 490:116–20. DOI: 10.1038/nature11378. PMID: 22885699. PMCID: PMC3609867.

20. Jiang L, Gu ZH, Yan ZX, et al. 2015; Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma. Nat Genet. 47:1061–6. DOI: 10.1038/ng.3358. PMID: 26192917.